Atelosteogenesis type 2.
Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it has recently been confirmed that both syndromes result from mutations in the DTDST (diastrophic dysplasia sulphate transporter) gene.
Newbury-Ecob
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Clinical Genetics Service, Bristol Royal Hospital for Sick Children, UK.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D027321:Anion Transport Proteins; D002352:Carrier Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000076988:Sulfate Transporters; D013577:Syndrome
D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters